aplasia/hypoplasia of the femur Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the femur. (Human Phenotype Ontology, HP_0005613)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005613
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Genes

25 genes associated with the aplasia/hypoplasia of the femur phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGPS alkylglycerone phosphate synthase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BMPR1B bone morphogenetic protein receptor, type IB
CANT1 calcium activated nucleotidase 1
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CTC1 CTS telomere maintenance complex component 1
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
GDF5 growth differentiation factor 5
IDUA iduronidase, alpha-L-
IFT140 intraflagellar transport 140
IHH indian hedgehog
MATN3 matrilin 3
MMP9 matrix metallopeptidase 9
POC1A POC1 centriolar protein A
RUNX2 runt-related transcription factor 2
SHOX short stature homeobox
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC39A13 solute carrier family 39 (zinc transporter), member 13
TRAPPC2 trafficking protein particle complex 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB16 zinc finger and BTB domain containing 16